Revel Score:
ENST00000507866 (MANE Select)
0.351
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006642 (NFE)
Genomes Max Group AF
0.00002846 (NFE)
Exomes Max Group AF
0.0000661 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.7396304C>T , CM000666.2:g.7396304C>T | GRCh38 |
| NC_000004.11:g.7398031C>T , CM000666.1:g.7398031C>T | GRCh37 |
| NC_000004.10:g.7448932C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329016.10:c.-20C>T | ENSP00000329124.10:n.-20C>T | |
| ENST00000507866.6:c.497C>T MANE Select | ENSP00000422185.2:p.Thr166Met | |
| ENST00000511199.1:n.112C>T | ||
| NM_020777.2:c.497C>T | NP_065828.2:p.Thr166Met | |
| XM_005247987.3:c.497C>T | XP_005248044.2:p.Thr166Met | |
| XM_011513514.1:c.497C>T | XP_011511816.1:p.Thr166Met | |
| XM_011513515.1:c.497C>T | XP_011511817.1:p.Thr166Met | |
| XM_011513516.1:c.497C>T | XP_011511818.1:p.Thr166Met | |
| XM_011513517.1:c.104C>T | XP_011511819.1:p.Thr35Met | |
| XM_005247987.4:c.497C>T | XP_005248044.2:p.Thr166Met | |
| XM_011513514.2:c.497C>T | XP_011511816.1:p.Thr166Met | |
| XM_011513515.2:c.497C>T | XP_011511817.1:p.Thr166Met | |
| XM_011513516.2:c.497C>T | XP_011511818.1:p.Thr166Met | |
| XM_017008481.1:c.497C>T | XP_016863970.1:p.Thr166Met | |
| NM_020777.3:c.497C>T MANE Select | NP_065828.2:p.Thr166Met |